A7V (p.Ala7Val) variant of SLC5A2 (Sodium/glucose cotransporter 2)
A7V (p.Ala7Val) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD rs868206719
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.13
- CADD 15.90
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available